rs104886077

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104886077(-;-)

Make rs104886077(-;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578292

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886077
dbSNP (classic)	rs104886077
ClinGen	rs104886077
ebi	rs104886077
HLI	rs104886077
Exac	rs104886077
Gnomad	rs104886077
Varsome	rs104886077
LitVar	rs104886077
Map	rs104886077
PheGenI	rs104886077
Biobank	rs104886077
1000 genomes	rs104886077
hgdp	rs104886077
ensembl	rs104886077
geneview	rs104886077
scholar	rs104886077
google	rs104886077
pharmgkb	rs104886077
gwascentral	rs104886077
openSNP	rs104886077
23andMe	rs104886077
SNPshot	rs104886077
SNPdbe	rs104886077
MSV3d	rs104886077
GWAS Ctlg	rs104886077

Max Magnitude

0

ClinVar
Risk	rs104886077(-;-)
Alt	rs104886077(-;-)
Reference	Rs104886077(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821522delG
CLNSRC	ClinVar
CLNACC	RCV000021193.1,

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also